Longitudinal Improvement of Lower Urinary Tract Symptoms in Williams-Beuren Syndrome
Nenhuma Miniatura disponível
Citações na Scopus
1
Tipo de produção
article
Data de publicação
2021
Título da Revista
ISSN da Revista
Título do Volume
Editora
LIPPINCOTT WILLIAMS & WILKINS
Autores
Citação
JOURNAL OF UROLOGY, v.205, n.5, p.1476-1481, 2021
Resumo
Purpose: Williams-Beuren syndrome is a chromosomal disorder caused by a deletion at region 7q11.23. Lower urinary tract symptoms are highly prevalent and significantly affect quality of life. We assessed the long-term out-comes of lower urinary tract symptoms in children with Williams-Beuren syndrome. Materials and Methods: From February 2001 to July 2016, 90 patients with Williams-Beuren syndrome were evaluated in our hospital, of whom 31 (20 boys) had at least 5 years of followup. Baseline evaluation included a history of lower urinary tract symptoms, frequency-volume chart and the impact on quality of life measured on a scale of 0 (delighted) to 6 (terrible). Pharmacological therapy with oxybutynin or doxazosin was offered to symptomatic patients. We present the outcome of lower urinary tract symptoms after 5 and 10 years of followup. Results: At baseline 27 (87.1%) patients were symptomatic. Median duration of followup was 10 (range 6-13) years. Pharmacological therapy was started for 25 (92.6%) symptomatic patients at baseline, including oxybutynin for 19 (76.0%), doxazosin for 1 (4.0%) and a combination of the 2 agents for 5 (20.0%). Medical therapy was still in use by 61.2% after 5 years and 52.9% after 10 years (p=0.043). Median duration of pharmacological treatment was 7 (range 6-11) years. A significant improvement of lower urinary tract symptoms was observed over time, with 35.5% and 29.5% patients considered symptomatic after 5 years and 10 years, respectively (p < 0.001). Quality of life was also markedly improved over time (p < 0.001). Conclusions: This long-term study showed significant improvement of lower urinary tract symptoms in children and adolescents with Williams-Beuren syndrome over time. Long-term pharmacological treatment was needed in most patients.
Palavras-chave
Williams syndrome, lower urinary tract symptoms, pediatrics, urinary incontinence, muscarinic antagonists
Referências
- Austin PF, 2016, NEUROUROL URODYNAM, V35, P471, DOI 10.1002/nau.22751
- Blais AS, 2016, CUAJ-CAN UROL ASSOC, V10, P137, DOI 10.5489/cuaj.3527
- Chancellor M, 2012, CNS NEUROSCI THER, V18, P167, DOI 10.1111/j.1755-5949.2011.00248.x
- Elison S, 2010, RES DEV DISABIL, V31, P587, DOI 10.1016/j.ridd.2009.12.013
- EWART AK, 1993, NAT GENET, V5, P11, DOI 10.1038/ng0993-11
- Franco I, 2011, CURR OPIN UROL, V21, P334, DOI 10.1097/MOU.0b013e328346d4bb
- LOWERY MC, 1995, AM J HUM GENET, V57, P49
- Mobbs D, 2007, BIOL PSYCHIAT, V62, P256, DOI 10.1016/j.biopsych.2006.05.041
- MORRIS CA, 1988, J PEDIATR-US, V113, P318, DOI 10.1016/S0022-3476(88)80272-5
- Nadeau G, 2014, CUAJ-CAN UROL ASSOC, V8, P118, DOI 10.5489/cuaj.1356
- Neveus T, 2020, J PEDIATR UROL, V16, P10, DOI 10.1016/j.jpurol.2019.12.020
- Osborne LR, 1999, MOL GENET METAB, V67, P1, DOI 10.1006/mgme.1999.2844
- PANKAU R, 1994, AM J MED GENET, V52, P285, DOI 10.1002/ajmg.1320520307
- Powers MK, 2015, J UROLOGY, V194, P783, DOI 10.1016/j.juro.2015.03.114
- Sammour ZM, 2014, J PEDIATR UROL, V10, P804, DOI 10.1016/j.jpurol.2014.01.013
- Sammour ZM, 2012, J UROLOGY, V188, P253, DOI 10.1016/j.juro.2012.03.024
- Sammour ZM, 2006, J UROLOGY, V175, P1472, DOI 10.1016/S0022-5347(05)00666-X
- Santoro SD, 2016, PHYSIOL BEHAV, V159, P14, DOI 10.1016/j.physbeh.2016.03.010
- Schulman SL, 1996, J PEDIATR-US, V129, P466, DOI 10.1016/S0022-3476(96)70086-0
- Silver FH, 2001, CRIT REV BIOMED ENG, V29, P279, DOI 10.1615/CritRevBiomedEng.v29.i3.10
- Sommer BR, 2005, J UROLOGY, V173, P2125, DOI 10.1097/01.ju.0000157685.83573.79
- Udwin O, 1996, DEV MED CHILD NEUROL, V38, P1020, DOI 10.1111/j.1469-8749.1996.tb15062.x
- VANGOOL JD, 1992, SCAND J UROL NEPHROL, P58
- von Gontard A, 2016, NEUROUROL URODYNAM, V35, P1000, DOI 10.1002/nau.22866
- von Gontard A, 2013, NAT REV UROL, V10, P667, DOI 10.1038/nrurol.2013.213
- Waxler JL, 2009, PEDIATR ANN, V38, P456, DOI 10.3928/00904481-20090723-10
- Wendt L, 2010, Dev Med Child Neurol, V32, P515
- Yang SSD, 2012, WORLD J UROL, V30, P69, DOI 10.1007/s00345-011-0700-5